Broca PP: Traite des Tumeurs. 1866, Paris: Asselin
Google Scholar
Goldgar DE, Easton DF, Cannon-Albright L, Skolnick MH: Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst. 1994, 86: 1600-1608. 10.1093/jnci/86.21.1600.
Article
CAS
PubMed
Google Scholar
Amundadottir LT, Thorvaldsson S, Gudbjartsson DF, Sulem P, Kristjansson K, Arnason S, Gulcher JR, Bjornsson J, Kong A, Thorsteinsdottir U, Stefansson K: Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear family. PLoS Med. 2004, 1: e65-10.1371/journal.pmed.0010065.
Article
PubMed
PubMed Central
Google Scholar
Stratton MR, Rahman N: The emerging landscape of breast cancer susceptibility. Nat Genet. 2008, 40: 17-22. 10.1038/ng.2007.53.
Article
CAS
PubMed
Google Scholar
Genetic susceptibility. World Cancer Report 2008. Edited by: Boyle P, Levin B. 2008, Lyon, France: International Agency for Research on Cancer (IARC), 182-185.
Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N: ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006, 38: 873-875. 10.1038/ng1837.
Article
CAS
PubMed
Google Scholar
Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallee MP, Voegele C, Webb PM, Whiteman DC, Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G: Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet. 2009, 85: 427-446. 10.1016/j.ajhg.2009.08.018.
Article
CAS
PubMed
PubMed Central
Google Scholar
Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D, Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR, Rahman N: Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006, 38: 1239-1241. 10.1038/ng1902.
Article
CAS
PubMed
Google Scholar
Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, Elstrodt F, van Duijn C, Bartels C, Meijers C, Schutte M, McGuffog L, Thompson D, Easton D, Sodha N, Seal S, Barfoot R, Mangion J, Chang-Claude J, Eccles D, Eeles R, Evans DG, Houlston R, Murday V, Narod S, Peretz T, CHEK2-Breast Cancer Consortium, et al: Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet. 2002, 31: 55-59. 10.1038/ng879.
Article
CAS
PubMed
Google Scholar
Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Easton DF, Stratton MR: PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2006, 39: 165-167. 10.1038/ng1959.
Article
PubMed
PubMed Central
Google Scholar
Erkko H, Dowty JG, Nikkila J, Syrjakoski K, Mannermaa A, Pylkas K, Southey MC, Holli K, Kallioniemi A, Jukkola-Vuorinen A, Kataja V, Kosma VM, Xia B, Livingston DM, Winqvist R, Hopper JL: Penetrance analysis of the PALB2 c.1592delT founder mutation. Clin Cancer Res. 2008, 14: 4667-4671. 10.1158/1078-0432.CCR-08-0210.
Article
CAS
PubMed
Google Scholar
Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, Fletcher O, et al: Genome-wide association study identifies novel breast cancer susceptibility loci. Nature. 2007, 447: 1087-1093. 10.1038/nature05887.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, Hankinson SE, Wacholder S, Wang Z, Welch R, Hutchinson A, Wang J, Yu K, Chatterjee N, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Hayes RB, Tucker M, Gerhard DS, Fraumeni JFJ, Hoover RN, Thomas G, Chanock SJ: A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet. 2007, 39: 870-874. 10.1038/ng2075.
Article
CAS
PubMed
PubMed Central
Google Scholar
Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, Gudjonsson SA, Masson G, Jakobsdottir M, Thorlacius S, Helgason A, Aben KK, Strobbe LJ, Albers-Akkers MT, Swinkels DW, Henderson BE, Kolonel LN, Le Marchand L, Millastre E, Andres R, Godino J, Garcia-Prats MD, Polo E, Tres A, Mouy M, Saemundsdottir J, Backman VM, Gudmundsson L, Kristjansson K, Bergthorsson JT, Kostic J, et al: Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2007, 39: 865-869. 10.1038/ng2064.
Article
CAS
PubMed
Google Scholar
Thompson D, Easton D: The genetic epidemiology of breast cancer genes. J Mammary Gland Biol Neoplasia. 2004, 9: 221-236. 10.1023/B:JOMG.0000048770.90334.3b.
Article
PubMed
Google Scholar
Mavaddat N, Pharoah PD, Blows F, Driver KE, Provenzano E, Thompson D, Macinnis RJ, Shah M, Search SO, Easton DF, Antoniou AC: Familial relative risks for breast cancer by pathological subtype: a population-based cohort study. Breast Cancer Res. 2010, 12: R10-10.1186/bcr2576.
Article
PubMed
PubMed Central
Google Scholar
Hopper JL, Carlin JB: Familial aggregation of a disease consequent upon correlation between relatives in a risk factor measured on a continuous scale. Am J Epidemiol. 1992, 136: 1138-1147.
CAS
PubMed
Google Scholar
Antoni L, Sodha N, Collins I, Garrett MD: CHK2 kinase: cancer susceptibility and cancer therapy: two sides of the same coin?. Nat Rev Cancer. 2007, 7: 925-936. 10.1038/nrc2251.
Article
CAS
PubMed
Google Scholar
Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA: Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science. 1999, 286: 2528-2531. 10.1126/science.286.5449.2528.
Article
CAS
PubMed
Google Scholar
Cybulski C, Gorski B, Huzarski T, Masojc B, Mierzejewski M, Debniak T, Teodorczyk U, Byrski T, Gronwald J, Matyjasik J, Zlowocka E, Lenner M, Grabowska E, Nej K, Castaneda J, Medrek K, Szymanska A, Szymanska J, Kurzawski G, Suchy J, Oszurek O, Witek A, Narod SA, Lubinski J: CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet. 2004, 75: 1131-1135. 10.1086/426403.
Article
CAS
PubMed
PubMed Central
Google Scholar
Cybulski C, Masojc B, Oszutowska D, Jaworowska E, Grodzki T, Waloszczyk P, Serwatowski P, Pankowski J, Huzarski T, Byrski T, Gorski B, Jakubowska A, Debniak T, Wokolorczyk D, Gronwald J, Tarnowska C, Serrano-Fernandez P, Lubinski J, Narod SA: Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers. Carcinogenesis. 2008, 29: 762-765. 10.1093/carcin/bgn044.
Article
CAS
PubMed
Google Scholar
Shaag A, Walsh T, Renbaum P, Kirchhoff T, Nafa K, Shiovitz S, Mandell JB, Welcsh P, Lee MK, Ellis N, Offit K, Levy-Lahad E, King MC: Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum Mol Genet. 2005, 14: 555-563. 10.1093/hmg/ddi052.
Article
CAS
PubMed
Google Scholar
Laitman Y, Kaufman B, Lahad EL, Papa MZ, Friedman E: Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. Isr Med Assoc J. 2007, 9: 791-796.
CAS
PubMed
Google Scholar
Cybulski C, Górski B, Huzarski T, Byrski T, Gronwald J, Debniak T, Wokolorczyk D, Jakubowska A, Kowalska E, Oszurek O, Narod SA, Lubinski J: CHEK2-positive breast cancers in young Polish women. Clin Cancer Res. 2006, 12: 4832-4835. 10.1158/1078-0432.CCR-06-0158.
Article
CAS
PubMed
Google Scholar
Cybulski C, Wokolorczyk D, Kladny J, Kurzawski G, Suchy J, Grabowska E, Gronwald J, Huzarski T, Byrski T, Gorski B, D Ecedil Bniak T, Narod SA, Lubinski J: Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations?. Eur J Hum Genet. 2007, 15: 237-241. 10.1038/sj.ejhg.5201734.
Article
CAS
PubMed
Google Scholar
Brennan P, McKay J, Moore L, Zaridze D, Mukeria A, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, Chow WH, Rothman N, Chabrier A, Gaborieau V, Odefrey F, Southey M, Hashibe M, Hall J, Boffetta P, Peto J, Peto R, Hung RJ: Uncommon CHEK2 mis-sense variant and reduced risk of tobacco-related cancers: case-control study. Hum Mol Genet. 2007, 16: 1794-1801.
Article
CAS
PubMed
Google Scholar
Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH: Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science. 2004, 305: 869-872. 10.1126/science.1099870.
Article
CAS
PubMed
Google Scholar
Kanetsky PA, Rebbeck TR, Hummer AJ, Panossian S, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Gruber SB, Culver HA, Zanetti R, Gallagher RP, Dwyer T, Busam K, From L, Mujumdar U, Wilcox H, Begg CB, Berwick M: Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma. Cancer Res. 2006, 66: 9330-9337. 10.1158/0008-5472.CAN-06-1634.
Article
CAS
PubMed
Google Scholar
Fernandez L, Milne R, Bravo J, Lopez J, Avilés J, Longo M, Benítez J, Lázaro P, Ribas G: MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population. Carcinogenesis. 2007, 28: 1659-1664. 10.1093/carcin/bgm084.
Article
CAS
PubMed
Google Scholar
John EM, Hopper JL, Beck JC, Knight JA, Neuhausen SL, Senie RT, Ziogas A, Andrulis IL, Anton-Culver H, Boyd N, Buys SS, Daly MB, O'Malley FP, Santella RM, Southey MC, Venne VL, Venter DJ, West DW, Whittemore AS, Seminara D: The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Res. 2004, 6: R375-R389. 10.1186/bcr801.
Article
PubMed
PubMed Central
Google Scholar
Reed GH, Wittwer CT: Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis. Clin Chem. 2004, 50: 1748-1754. 10.1373/clinchem.2003.029751.
Article
CAS
PubMed
Google Scholar
Takano EA, Mitchell G, Fox SB, Dobrovic A: Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis. BMC Cancer. 2008, 8: 59-10.1186/1471-2407-8-59.
Article
PubMed
PubMed Central
Google Scholar
Single Nucleotide Polymorphism Database (dbSNP). [http://www.ncbi.nlm.nih.gov/projects/SNP/]
Nguyen-Dumont T, Calvez-Kelm FL, Forey N, McKay-Chopin S, Garritano S, Gioia-Patricola L, De Silva D, Weigel R, Sangrajrang S, Lesueur F, Tavtigian SV: Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis. Hum Mutat. 2009, 30: 884-890. 10.1002/humu.20949.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sodha N, Houlston RS, Williams R, Yuille MA, Mangion J, Eeles RA: A robust method for detecting CHK2/RAD53 mutations in genomic DNA. Hum Mutat. 2002, 19: 173-177. 10.1002/humu.10031.
Article
CAS
PubMed
Google Scholar
Voegele C, Tavtigian SV, de Silva D, Cuber S, Thomas A, Le Calvez-Kelm F: A Laboratory Information Management System (LIMS) for a high throughput genetic platform aimed at candidate gene mutation screening. Bioinformatics. 2007, 23: 2504-2506. 10.1093/bioinformatics/btm365.
Article
CAS
PubMed
Google Scholar
T-Coffee Multiple Sequence Alignment Tools. [http://www.tcoffee.org/Projects_home_page/t_coffee_home_page.html]
Wallace IM, O'Sullivan O, Higgins DG, Notredame C: M-Coffee: combining multiple sequence alignment methods with T-Coffee. Nucleic Acids Res. 2006, 34: 1692-1699. 10.1093/nar/gkl091.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sodha N, Mantoni TS, Tavtigian SV, Eeles R, Garrett MD: Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. Cancer Res. 2006, 66: 8966-8970. 10.1158/0008-5472.CAN-06-1990.
Article
CAS
PubMed
Google Scholar
Felsenstein J: PHYLIP: Phylogeny Inference Package (version 3.2). Cladistics. 1989, 5: 164-166.
Google Scholar
Ng PC, Henikoff S: Accounting for human polymorphisms predicted to affect protein function. Genome Res. 2002, 12: 436-446. 10.1101/gr.212802.
Article
CAS
PubMed
PubMed Central
Google Scholar
SIFT. [http://sift.jcvi.org/]
Align-GVGD. [http://agvgd.iarc.fr/]
Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A: Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet. 2006, 43: 295-305. 10.1136/jmg.2005.033878.
Article
CAS
PubMed
Google Scholar
Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A: Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat. 2008, 29: 1342-1354. 10.1002/humu.20896.
Article
CAS
PubMed
PubMed Central
Google Scholar
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR: A method and server for predicting damaging missense mutations. Nat Methods. 2010, 7: 248-249. 10.1038/nmeth0410-248.
Article
CAS
PubMed
PubMed Central
Google Scholar
PolyPhen-2: prediction of functional effects of human nsSNPs. [http://genetics.bwh.harvard.edu/pph2/]
Greenland S: Applications of stratified analysis methods. Modern Epidemiology. Edited by: Rothman KJ, Greenland S. 1998, Philadelphia: Lippincott-Raven, 281-300. 2
Google Scholar
Goldgar DE: Population aspects of cancer genetics. Biochimie. 2002, 84: 19-25. 10.1016/S0300-9084(01)01357-8.
Article
CAS
PubMed
Google Scholar
CHEK2 Breast Cancer Case-Control Consortium: CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004, 74: 1175-1182. 10.1086/421251.
Article
Google Scholar
Bernstein JL, Teraoka SN, John EM, Andrulis IL, Knight JA, Lapinski R, Olson ER, Wolitzer AL, Seminara D, Whittemore AS, Concannon P: The CHEK2*1100delC allelic variant and risk of breast cancer: screening results from the Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev. 2006, 15: 348-352. 10.1158/1055-9965.EPI-05-0557.
Article
CAS
PubMed
Google Scholar
Greenblatt MS, Beaudet JG, Gump JR, Godin KS, Trombley L, Koh J, Bond JP: Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants. Oncogene. 2003, 22: 1150-1163. 10.1038/sj.onc.1206101.
Article
CAS
PubMed
Google Scholar
Cooper GM, Brudno M, Green ED, Batzoglou S, Sidow A: Quantitative estimates of sequence divergence for comparative analyses of mammalian genomes. Genome Res. 2003, 13: 813-820. 10.1101/gr.1064503.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lunter G, Hein J: A nucleotide substitution model with nearest-neighbour interactions. Bioinformatics. 2004, 20 (Suppl 1): I216-I223. 10.1093/bioinformatics/bth901.
Article
CAS
PubMed
Google Scholar
Bell DW, Kim SH, Godwin AK, Schiripo TA, Harris PL, Haserlat SM, Wahrer DC, Haiman CA, Daly MB, Niendorf KB, Smith MR, Sgroi DC, Garber JE, Olopade OI, Le Marchand L, Henderson BE, Altshuler D, Haber DA, Freedman ML: Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. Int J Cancer. 2007, 121: 2661-2667. 10.1002/ijc.23026.
Article
CAS
PubMed
PubMed Central
Google Scholar
Wu X, Dong X, Liu W, Chen J: Characterization of CHEK2 mutations in prostate cancer. Hum Mutat. 2006, 27: 742-747. 10.1002/humu.20321.
Article
CAS
PubMed
Google Scholar
Grantham R: Amino acid difference formula to help explain protein evolution. Science. 1974, 185: 862-864. 10.1126/science.185.4154.862.
Article
CAS
PubMed
Google Scholar
Lee SB, Kim SH, Bell DW, Wahrer DC, Schiripo TA, Jorczak MM, Sgroi DC, Garber JE, Li FP, Nichols KE, Varley JM, Godwin AK, Shannon KM, Harlow E, Haber DA: Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. Cancer Res. 2001, 61: 8062-8067.
CAS
PubMed
Google Scholar
Cai Z, Chehab NH, Pavletich NP: Structure and activation mechanism of the CHK2 DNA damage checkpoint kinase. Mol Cell. 2009, 35: 818-829. 10.1016/j.molcel.2009.09.007.
Article
CAS
PubMed
Google Scholar
Falck J, Mailand N, Syljuåsen RG, Bartek J, Lukas J: The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. Nature. 2001, 410: 842-847. 10.1038/35071124.
Article
CAS
PubMed
Google Scholar
Li J, Williams BL, Haire LF, Goldberg M, Wilker E, Durocher D, Yaffe MB, Jackson SP, Smerdon SJ: Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2. Mol Cell. 2002, 9: 1045-1054. 10.1016/S1097-2765(02)00527-0.
Article
CAS
PubMed
Google Scholar
Chrisanthar R, Knappskog S, Lokkevik E, Anker G, Ostenstad B, Lundgren S, Berge EO, Risberg T, Mjaaland I, Maehle L, Engebretsen LF, Lillehaug JR, Lonning PE: CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer. PLoS One. 2008, 3: e3062-10.1371/journal.pone.0003062.
Article
PubMed
PubMed Central
Google Scholar
Nevanlinna H, Bartek J: The CHEK2 gene and inherited breast cancer susceptibility. Oncogene. 2006, 25: 5912-5919. 10.1038/sj.onc.1209877.
Article
CAS
PubMed
Google Scholar
Couch FJ, Rasmussen LJ, Hofstra R, Monteiro AN, Greenblatt MS, de Wind N: Assessment of functional effects of unclassified genetic variants. Hum Mutat. 2008, 29: 1314-1326. 10.1002/humu.20899.
Article
CAS
PubMed
PubMed Central
Google Scholar
Goldgar DE, Easton DF, Byrnes GB, Spurdle AB, Iversen ES, Greenblatt MS: Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum Mutat. 2008, 29: 1265-1272. 10.1002/humu.20897.
Article
PubMed
PubMed Central
Google Scholar
Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV: Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008, 29: 1282-1291. 10.1002/humu.20880.
Article
CAS
PubMed
PubMed Central
Google Scholar
American Society of Clinical Oncology: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol. 2003, 21: 2397-2406. 10.1200/JCO.2003.03.189.
Article
Google Scholar
Johnson N, Fletcher O, Naceur-Lombardelli C, dos Santos Silva I, Ashworth A, Peto J: Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. Lancet. 2005, 366: 1554-1557. 10.1016/S0140-6736(05)67627-1.
Article
CAS
PubMed
Google Scholar
Byrnes GB, Southey MC, Hopper JL: Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?. Breast Cancer Res. 2008, 10: 208-10.1186/bcr2099.
Article
PubMed
PubMed Central
Google Scholar
Narod SA: Testing for CHEK2 in the cancer genetics clinic: ready for prime time?. Clin Genet. 2010, 78: 1-7. 10.1111/j.1399-0004.2010.01402.x.
Article
CAS
PubMed
Google Scholar
Bernstein JL, Haile RW, Stovall M, Boice JDJ, Shore RE, Langholz B, Thomas DC, Bernstein L, Lynch CF, Olsen JH, Malone KE, Mellemkjaer L, Borresen-Dale AL, Rosenstein BS, Teraoka SN, Diep AT, Smith SA, Capanu M, Reiner AS, Liang X, Gatti RA, Concannon P, WECARE Study Collaborative Group: Radiation exposure, the ATM gene, and contralateral breast cancer in the Women's Environmental Cancer and Radiation Epidemiology Study. J Natl Cancer Inst. 2010, 102: 475-483. 10.1093/jnci/djq055.
Article
CAS
PubMed
PubMed Central
Google Scholar
Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC: Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA. 2010, 107: 12629-12633. 10.1073/pnas.1007983107.
Article
CAS
PubMed
PubMed Central
Google Scholar
Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV, Goldgar DE: Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis: a report from the kConFab Investigators. J Clin Oncol. 2008, 26: 1657-1663. 10.1200/JCO.2007.13.2779.
Article
CAS
PubMed
Google Scholar